Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome

por Verhoeven, Willem, Egger, Jos, Räkers, Emmy, van Erkelens, Arjen, Pfundt, Rolph, Willemsen, Marjolein H
Publicado 2018

Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

por Verhoeven, Willem MA, Egger, Jos IM, Willemsen, Marjolein H, de Leijer, Gert JM, Kleefstra, Tjitske
Publicado 2012

Phenytoin as a last‐resort treatment in SCN8A encephalopathy

por Braakman, Hilde M., Verhoeven, Judith S., Erasmus, Corrie E., Haaxma, Charlotte A., Willemsen, Marjolein H., Schelhaas, H. Jurgen
Publicado 2017

Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12

por Willemsen, Marjolein H., Goel, Himanshu, Verhoeven, Judith S., Braakman, Hilde M. H., de Leeuw, Nicole, Freeth, Alison, Minassian, Berge A.
Publicado 2020

A Patient with Moderate Intellectual Disability and 49, XXXYY Karyotype

por Verhoeven, Willem M A, Egger, Jos I M, Mergler, Sandra, Meijer, Ton A A, Pfundt, Rolph, Willemsen, Marjolein H
Publicado 2022

The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course

por Kuper, Willemijn F. E., van Alfen, Claudia, van Eck, Linda, de Man, Stella A., Willemsen, Marjolein H., van Gassen, Koen L. I., Losekoot, Monique, van Hasselt, Peter M.
Publicado 2020

A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability

por Verhoeven, Willem M A, Egger, Jos I M, Jongbloed, Rob E, van Putten, Marloes Meijer, de Bruin-van Zandwijk, Marieke, Zwemer, Anne-Suus, Pfundt, Rolph, Willemsen, Marjolein H
Publicado 2020

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

por Blanchard, Maxime G, Willemsen, Marjolein H, Walker, Jaclyn B, Dib-Hajj, Sulayman D, Waxman, Stephen G, Jongmans, Marjolijn CJ, Kleefstra, Tjitske, van de Warrenburg, Bart P, Praamstra, Peter, Nicolai, Joost, Yntema, Helger G, Bindels, René JM, Meisler, Miriam H, Kamsteeg, Erik-Jan
Publicado 2015

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability

por Pagan, Cecile, Botros, Hany Goubran, Poirier, Karine, Dumaine, Anne, Jamain, Stéphane, Moreno, Sarah, de Brouwer, Arjan, Van Esch, Hilde, Delorme, Richard, Launay, Jean-Marie, Tzschach, Andreas, Kalscheuer, Vera, Lacombe, Didier, Briault, Sylvain, Laumonnier, Frédéric, Raynaud, Martine, van Bon, Bregje W, Willemsen, Marjolein H, Leboyer, Marion, Chelly, Jamel, Bourgeron, Thomas
Publicado 2011

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype–phenotype associations in the muscular dystrophy-dystroglycan...

por Maroofian, Reza, Riemersma, Moniek, Jae, Lucas T., Zhianabed, Narges, Willemsen, Marjolein H., Wissink-Lindhout, Willemijn M., Willemsen, Michèl A., de Brouwer, Arjan P. M., Mehrjardi, Mohammad Yahya Vahidi, Ashrafi, Mahmoud Reza, Kusters, Benno, Kleefstra, Tjitske, Jamshidi, Yalda, Nasseri, Mojila, Pfundt, Rolph, Brummelkamp, Thijn R., Abbaszadegan, Mohammad Reza, Lefeber, Dirk J., van Bokhoven, Hans
Publicado 2017

Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome

por Buijsse, Nathan, Jansen, Floor E., Ockeloen, Charlotte W., van Kempen, Marjan J. A., Zeidler, Shimriet, Willemsen, Marjolein H., Scarano, Emanuela, Monticone, Sonia, Zonneveld‐Huijssoon, Evelien, Low, Karen J., Bayat, Allan, Sisodiya, Sanjay M., Samanta, Debopam, Lesca, Gaetan, de Jong, Danielle, Giltay, Jaqcues C., Verbeek, Nienke E., Kleefstra, Tjitske, Brilstra, Eva H., Vlaskamp, Danique R. M.
Publicado 2023

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder

por Koemans, Tom S., Kleefstra, Tjitske, Chubak, Melissa C., Stone, Max H., Reijnders, Margot R. F., de Munnik, Sonja, Willemsen, Marjolein H., Fenckova, Michaela, Stumpel, Connie T. R. M., Bok, Levinus A., Sifuentes Saenz, Margarita, Byerly, Kyna A., Baughn, Linda B., Stegmann, Alexander P. A., Pfundt, Rolph, Zhou, Huiqing, van Bokhoven, Hans, Schenck, Annette, Kramer, Jamie M.
Publicado 2017

A SWI/SNF related autism syndrome caused by de novo mutations in ADNP

por Helsmoortel, Céline, Vulto-van Silfhout, Anneke T., Coe, Bradley P., Vandeweyer, Geert, Rooms, Liesbeth, van den Ende, Jenneke, Schuurs-Hoeijmakers, Janneke H.M., Marcelis, Carlo L., Willemsen, Marjolein H., Vissers, Lisenka E.L.M., Yntema, Helger G., Bakshi, Madhura, Wilson, Meredith, Witherspoon, Kali T, Malmgren, Helena, Nordgren, Ann, Annerén, Göran, Fichera, Marco, Bosco, Paolo, Romano, Corrado, de Vries, Bert B.A., Kleefstra, Tjitske, Kooy, R. Frank, Eichler, Evan E., Van der Aa, Nathalie
Publicado 2014

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

por Ockeloen, Charlotte W, Willemsen, Marjolein H, de Munnik, Sonja, van Bon, Bregje WM, de Leeuw, Nicole, Verrips, Aad, Kant, Sarina G, Jones, Elizabeth A, Brunner, Han G, van Loon, Rosa LE, Smeets, Eric EJ, van Haelst, Mieke M, van Haaften, Gijs, Nordgren, Ann, Malmgren, Helena, Grigelioniene, Giedre, Vermeer, Sascha, Louro, Pedro, Ramos, Lina, Maal, Thomas JJ, van Heumen, Celeste C, Yntema, Helger G, Carels, Carine EL, Kleefstra, Tjitske
Publicado 2015

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

por Ockeloen, Charlotte W, Willemsen, Marjolein H, de Munnik, Sonja, van Bon, Bregje WM, de Leeuw, Nicole, Verrips, Aad, Kant, Sarina G, Jones, Elizabeth A, Brunner, Han G, van Loon, Rosa LE, Smeets, Eric EJ, van Haelst, Mieke M, van Haaften, Gijs, Nordgren, Ann, Malmgren, Helena, Grigelioniene, Giedre, Vermeer, Sascha, Louro, Pedro, Ramos, Lina, Maal, Thomas JJ, van Heumen, Celeste C, Yntema, Helger G, Carels, Carine EL, Kleefstra, Tjitske
Publicado 2015

KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

por Miceli, Francesco, Millevert, Charissa, Soldovieri, Maria Virginia, Mosca, Ilaria, Ambrosino, Paolo, Carotenuto, Lidia, Schrader, Dewi, Lee, Hyun Kyung, Riviello, James, Hong, William, Risen, Sarah, Emrick, Lisa, Amin, Hitha, Ville, Dorothée, Edery, Patrick, de Bellescize, Julitta, Michaud, Vincent, Van-Gils, Julien, Goizet, Cyril, Willemsen, Marjolein H., Kleefstra, Tjitske, Møller, Rikke S, Bayat, Allan, Devinsky, Orrin, Sands, Tristan, Korenke, G. Christoph, Kluger, Gerhard, Mefford, Heather C., Brilstra, Eva, Lesca, Gaetan, Milh, Mathieu, Cooper, Edward C., Taglialatela, Maurizio, Weckhuysen, Sarah
Publicado 2022

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal network...

por Teunissen, Maria W A, Lewerissa, Elly, van Hugte, Eline J H, Wang, Shan, Ockeloen, Charlotte W, Koolen, David A, Pfundt, Rolph, Marcelis, Carlo L M, Brilstra, Eva, Howe, Jennifer L, Scherer, Stephen W, Le Guillou, Xavier, Bilan, Frédéric, Primiano, Michelle, Roohi, Jasmin, Piton, Amelie, de Saint Martin, Anne, Baer, Sarah, Seiffert, Simone, Platzer, Konrad, Jamra, Rami Abou, Syrbe, Steffen, Doering, Jan H, Lakhani, Shenela, Nangia, Srishti, Gilissen, Christian, Vermeulen, R Jeroen, Rouhl, Rob P W, Brunner, Han G, Willemsen, Marjolein H, Nadif Kasri, Nael
Publicado 2023

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

por Guo, Hui, Bettella, Elisa, Marcogliese, Paul C., Zhao, Rongjuan, Andrews, Jonathan C., Nowakowski, Tomasz J., Gillentine, Madelyn A., Hoekzema, Kendra, Wang, Tianyun, Wu, Huidan, Jangam, Sharayu, Liu, Cenying, Ni, Hailun, Willemsen, Marjolein H., van Bon, Bregje W., Rinne, Tuula, Stevens, Servi J. C., Kleefstra, Tjitske, Brunner, Han G., Yntema, Helger G., Long, Min, Zhao, Wenjing, Hu, Zhengmao, Colson, Cindy, Richard, Nicolas, Schwartz, Charles E., Romano, Corrado, Castiglia, Lucia, Bottitta, Maria, Dhar, Shweta U., Erwin, Deanna J., Emrick, Lisa, Keren, Boris, Afenjar, Alexandra, Zhu, Baosheng, Bai, Bing, Stankiewicz, Pawel, Herman, Kristin, Mercimek-Andrews, Saadet, Juusola, Jane, Wilfert, Amy B., Abou Jamra, Rami, Büttner, Benjamin, Mefford, Heather C., Muir, Alison M., Scheffer, Ingrid E., Regan, Brigid M., Malone, Stephen, Gecz, Jozef, Cobben, Jan, Weiss, Marjan M., Waisfisz, Quinten, Bijlsma, Emilia K., Hoffer, Mariëtte J. V., Ruivenkamp, Claudia A. L., Sartori, Stefano, Xia, Fan, Rosenfeld, Jill A., Bernier, Raphael A., Wangler, Michael F., Yamamoto, Shinya, Xia, Kun, Stegmann, Alexander P. A., Bellen, Hugo J., Murgia, Alessandra, Eichler, Evan E.
Publicado 2019

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

por Gehin, Charlotte, Lone, Museer A., Lee, Winston, Capolupo, Laura, Ho, Sylvia, Adeyemi, Adekemi M., Gerkes, Erica H., Stegmann, Alexander P.A., López-Martín, Estrella, Bermejo-Sánchez, Eva, Martínez-Delgado, Beatriz, Zweier, Christiane, Kraus, Cornelia, Popp, Bernt, Strehlow, Vincent, Gräfe, Daniel, Knerr, Ina, Jones, Eppie R., Zamuner, Stefano, Abriata, Luciano A., Kunnathully, Vidya, Moeller, Brandon E., Vocat, Anthony, Rommelaere, Samuel, Bocquete, Jean-Philippe, Ruchti, Evelyne, Limoni, Greta, Van Campenhoudt, Marine, Bourgeat, Samuel, Henklein, Petra, Gilissen, Christian, van Bon, Bregje W., Pfundt, Rolph, Willemsen, Marjolein H., Schieving, Jolanda H., Leonardi, Emanuela, Soli, Fiorenza, Murgia, Alessandra, Guo, Hui, Zhang, Qiumeng, Xia, Kun, Fagerberg, Christina R., Beier, Christoph P., Larsen, Martin J., Valenzuela, Irene, Fernández-Álvarez, Paula, Xiong, Shiyi, Śmigiel, Robert, López-González, Vanesa, Armengol, Lluís, Morleo, Manuela, Selicorni, Angelo, Torella, Annalaura, Blyth, Moira, Cooper, Nicola S., Wilson, Valerie, Oegema, Renske, Herenger, Yvan, Garde, Aurore, Bruel, Ange-Line, Tran Mau-Them, Frederic, Maddocks, Alexis B.R., Bain, Jennifer M., Bhat, Musadiq A., Costain, Gregory, Kannu, Peter, Marwaha, Ashish, Champaigne, Neena L., Friez, Michael J., Richardson, Ellen B., Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Gupta, Yask, Lim, Tze Y., Sanna-Cherchi, Simone, Lemaitre, Bruno, Yamaji, Toshiyuki, Hanada, Kentaro, Burke, John E., Jakšić, Ana Marjia, McCabe, Brian D., De Los Rios, Paolo, Hornemann, Thorsten, D’Angelo, Giovanni, Gennarino, Vincenzo A.
Publicado 2023

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

por Palmer, Elizabeth E., Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew H., Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S., Chedrawi, Aziza, Hashem, Mais O., Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance S., Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias B., Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda J., Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer M., Sands, Tristan T., Wilson, Golder N., Silvertooth, Erin J., Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein H., Ockeloen, Charlotte W., Pfundt, Rolph, Kroft, Sanne D., Field, Michael, Laranjeira, Francisco E. R., Fortuna, Ana M., Soares, Ana R., Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David D., Bird, Lynne M., Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe M., Blazo, Maria, Bijlsma, Emilia K., Rosenfeld, Jill A., Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb S., Armstrong, Ruth, Kalscheuer, Vera M.
Publicado 2022